Genetic study of familial cases of Alzheimer's disease.

• Authors: Anna Kowalska , Danuta Pruchnik-Wolińska , Jolanta Florczak , Renata Modestowicz , Józef Szczech , Wojciech Kozubski , Grzegorz Rossa , Mieczysław Wender
• Languages of publication: EN

Abstracts

EN

A small number (1-5%) of Alzheimer's disease (AD) cases associated with the early-onset form of the disease (EOAD) appears to be transmitted as a pure genetic, autosomal dominant trait. To date, three genes responsible for familial EOAD have been identified in the human genome: amyloid precursor protein (APP), presenilin 1 (PS1), and presenilin 2 (PS2). Mutations in these genes account for a significant fraction (18 to 50%) of familial cases of early onset AD. The mutations affect APP processing causing increased production of the toxic Aβ42 peptide. According to the "amyloid cascade hypothesis", aggregation of the Aβ42 peptide in brain is a primary event in AD pathogenesis. In our study of twenty AD patients with a positive family history of dementia, 15% (3 of 20) of the cases could be explained by coding sequence mutations in the PS1 gene. Although a frequency of PS1 mutations is less than 2% in the whole population of AD patients, their detection has a significant diagnostic value for both genetic counseling and treatment in families with AD.

Keywords

EN

neurodegeneration; dementia; presenilin 1 gene; amyloid precursor protein gene; Alzheimer's disease; mutation; presenilin 2 gene

• Publisher: Polish Biochemical Society
• Journal: Acta Biochimica Polonica
• Year: 2004
• Volume: 51
• Issue: 1
• Pages: 245-242

Dates

published

2004

received

2003-09-09

revised

2004-01-23

accepted

2004-01-29

Contributors

author

Anna Kowalska

• Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland

author

Danuta Pruchnik-Wolińska

• Department of Neurology, University of Medical Sciences, Poznań, Poland

author

Jolanta Florczak

• Department of Neurology, University of Medical Sciences, Poznań, Poland

author

Renata Modestowicz

• Department of Neurology, University of Medical Sciences, Poznań, Poland

author

Józef Szczech

• Department of Neurology, University of Medical Sciences, Poznań, Poland

author

Wojciech Kozubski

• Department of Neurology, University of Medical Sciences, Poznań, Poland

author

Grzegorz Rossa

• Provincial Hospital for Neurological and Psychiatric Diseases, Cibórz, Poland

author

Mieczysław Wender

• Neuroimmunological Unit, Medical Research Center, Polish Academy of Sciences, Poznań, Poland

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